A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report

Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental anomalies and a predisposition to neoplasms. Herein...

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Detalles Bibliográficos
Autores principales: Mashayekhi, Parisa, Omrani, Mir Davood, Tonekaboni, Seyed Hasan, Dehghanifard, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522635/
https://www.ncbi.nlm.nih.gov/pubmed/37752108
http://dx.doi.org/10.1038/s41439-023-00254-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522635/
https://www.ncbi.nlm.nih.gov/pubmed/37752108
http://dx.doi.org/10.1038/s41439-023-00254-9

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